Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	status	chr	external
COL21A1_chr6_56051590_56252580	56130165	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	264	0.0038	18	c.154 others(37): Show c.1543-4034_1543-4017dupTATATATATATATATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29		chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148338	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00733.hp2 others(20): Show HG00280.hp1 HG00639.hp2 HG00733.hp2 HG01099.hp2 HG01255.hp2 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02132.hp1 HG02559.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03927.hp2 HG03942.hp1 NA18945.hp1 NA18948.hp2 NA18965.hp1 NA18965.hp2 NA18989.hp2 NA19004.hp2 NA19074.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0019 a0001c0001 a0010c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0001t0021 a0010c0019t0006	a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0001g0142 others(20): Show a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0003g0043 a0001c0001t0003g0074 a0001c0001t0006g0012 a0001c0001t0006g0015 a0001c0001t0018g0032 a0001c0001t0021g0139 a0010c0019t0006g0024	23	264	0.0871	18	c.143 others(37): Show c.1435-6373_1435-6356dupCTCTCTCTCTCTCTCTCT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29		chr6	TogoVar
COL22A1_chr8_138583235_138919041	138663012	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2	a0001 a0009 a0001 a0009	a0001c0012 a0001c0027 a0009c0047 a0001c0012 a0001c0027 a0009c0047	a0001c0012t0001 a0001c0027t0001 a0009c0047t0001 a0001c0012t0001 a0001c0027t0001 a0009c0047t0001	a0001c0012t0001g0037 a0001c0027t0001g0024 a0009c0047t0001g0098 a0001c0012t0001g0037 a0001c0027t0001g0024 a0009c0047t0001g0098	3	158	0.0190	18	c.318 others(35): Show c.3186+692_3186+693insTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64		chr8	TogoVar
COL22A1_chr8_138583235_138919041	138664209	G G	GCGCGCGC others(11): Show GCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0120 a0001c0015t0002g0120	1	158	0.0063	18	c.315 others(35): Show c.3151-470_3151-469insTGTGCGCGCGCGCGCGCG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64		chr8	TogoVar
COL22A1_chr8_138583235_138919041	138742018	A A	AGAGTTGA others(11): Show AGAGTTGATGGTGATGGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0005 a0002c0011t0012 a0001c0002t0005 a0002c0011t0012	a0001c0002t0005g0141 a0002c0011t0012g0139 a0001c0002t0005g0141 a0002c0011t0012g0139	2	158	0.0127	18	c.208 others(37): Show c.2086-4459_2086-4442dupCACCATCACCATCAACTC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64		chr8	TogoVar
COL22A1_chr8_138583235_138919041	138795528	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02922.hp2 others(3): Show HG01433.hp1 HG01884.hp2 HG02922.hp2 HG02970.hp1 HG03516.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0010 others(3): Show a0001c0001 a0001c0006 a0001c0010 a0001c0024 a0002c0003 a0002c0022	a0001c0001t0001 a0001c0006t0001 a0001c0010t0007 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0010t0007 a0001c0024t0016 a0002c0003t0001 a0002c0022t0002	a0001c0001t0001g0116 a0001c0006t0001g0113 a0001c0010t0007g0155 others(3): Show a0001c0001t0001g0116 a0001c0006t0001g0113 a0001c0010t0007g0155 a0001c0024t0016g0158 a0002c0003t0001g0112 a0002c0022t0002g0028	6	158	0.0380	18	c.159 others(37): Show c.1596+1273_1596+1290dupGTGTGTGTGTGTGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	12/64		chr8	TogoVar
COL22A1_chr8_138583235_138919041	138806089	G G	GGTGTGTG others(11): Show GGTGTGTGATGGTGTGTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02895.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0001c0044 others(1): Show a0001c0002 a0001c0014 a0001c0044 a0002c0023	a0001c0002t0005 a0001c0014t0011 a0001c0044t0002 others(1): Show a0001c0002t0005 a0001c0014t0011 a0001c0044t0002 a0002c0023t0001	a0001c0002t0005g0151 a0001c0014t0011g0091 a0001c0044t0002g0065 others(1): Show a0001c0002t0005g0151 a0001c0014t0011g0091 a0001c0044t0002g0065 a0002c0023t0001g0036	4	158	0.0253	18	c.149 others(37): Show c.1494+1661_1494+1678dupAAACACACCATCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64		chr8	TogoVar
COL22A1_chr8_138583235_138919041	138809528	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0094 a0002c0004t0004g0094	1	158	0.0063	18	c.145 others(37): Show c.1450-1717_1450-1716insAAAAAAAAAAAAAAAAAA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	9/64		chr8	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACAC others(11): Show ACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	236	0.0042	18	c.105 others(35): Show c.1059+344_1059+345insAGAGTGTGTGTGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACAC others(11): Show ACACACACTCACTCTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	236	0.0042	18	c.105 others(35): Show c.1059+344_1059+345insAGAGAGAGTGAGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	236	0.0042	18	c.105 others(35): Show c.1059+344_1059+345insAGAGAGAGAGAGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACTC others(11): Show ACACACTCACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04199.hp1 NA18953.hp2 others(1): Show HG01168.hp1 HG04199.hp1 NA18953.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0029 a0001c0001t0004g0039 a0001c0001t0004g0065 others(1): Show a0001c0001t0004g0029 a0001c0001t0004g0039 a0001c0001t0004g0065 a0001c0004t0004g0110	4	236	0.0170	18	c.105 others(35): Show c.1059+344_1059+345insAGAGAGAGAGTGAGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACTCAC others(11): Show ACACTCACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	236	0.0042	18	c.105 others(35): Show c.1059+344_1059+345insAGAGAGAGAGAGTGAGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	236	0.0042	18	c.730 others(33): Show c.730-696_730-695insGTGTATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02647.hp1 HG01346.hp1 HG02647.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0001c0004 a0003c0007	a0001c0004t0001 a0003c0007t0001 a0001c0004t0001 a0003c0007t0001	a0001c0004t0001g0007 a0003c0007t0001g0030 a0001c0004t0001g0007 a0003c0007t0001g0030	2	236	0.0085	18	c.730 others(33): Show c.730-696_730-695insGTATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178358248	G G	GTATGTGT others(11): Show GTATGTGTGTGTATGTATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(93): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18959.hp2 NA18964.hp1 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013	a0001c0001 a0001c0004 a0002c0002 others(11): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0014 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0005c0008 a0005c0015 a0006c0020 a0010c0017 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0004t0004 a0002c0002t0001 a0002c0002t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0013 a0002c0014t0003 a0002c0022t0009 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0003c0007t0001 a0004c0006t0003 a0005c0008t0002 a0005c0015t0002 a0006c0020t0012 a0010c0017t0003 a0013c0010t0002	a0001c0001t0001g0199 a0001c0001t0002g0049 a0001c0001t0002g0083 others(93): Show a0001c0001t0001g0199 a0001c0001t0002g0049 a0001c0001t0002g0083 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0067 a0001c0001t0003g0123 a0001c0001t0003g0166 a0001c0001t0003g0183 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0109 a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0161 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0014g0224 a0001c0004t0004g0110 a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0219 a0002c0002t0009g0225 a0002c0003t0001g0004 a0002c0003t0001g0036 a0002c0003t0002g0097 a0002c0003t0002g0112 a0002c0003t0002g0121 a0002c0003t0002g0138 a0002c0003t0002g0209 a0002c0003t0003g0088 a0002c0003t0003g0126 a0002c0003t0003g0173 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0005g0092 a0002c0003t0005g0115 a0002c0003t0005g0146 a0002c0003t0005g0151 a0002c0003t0013g0114 a0002c0014t0003g0124 a0002c0022t0009g0233 a0003c0005t0002g0005 a0003c0005t0003g0010 a0003c0005t0003g0125 a0003c0005t0003g0217 a0003c0005t0005g0208 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0044 a0003c0007t0001g0102 a0003c0007t0001g0103 a0004c0006t0003g0130 a0005c0008t0002g0024 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0155 a0005c0015t0002g0017 a0006c0020t0012g0085 a0010c0017t0003g0018 a0013c0010t0002g0117	96	236	0.4068	18	c.362 others(37): Show c.362-51330_362-51329insTATACATACACACACATA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178517556	A A	AGTTTTTT others(11): Show AGTTTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	236	0.0042	18	c.361 others(37): Show c.361+43125_361+43126insAAGAAAAAAAAAAAAAAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178517557	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTCTTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp1 HG02055.hp1 others(14): Show HG00408.hp2 HG02015.hp1 HG02055.hp1 HG02145.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03669.hp2 NA18906.hp2 NA18950.hp1 NA19060.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0014 a0003c0005 a0003c0023 a0004c0006 a0010c0017	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0014t0003 a0003c0005t0003 a0003c0023t0010 a0004c0006t0003 a0010c0017t0003	a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0005g0009 others(14): Show a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0005g0009 a0001c0001t0007g0008 a0001c0004t0001g0007 a0001c0004t0004g0023 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0003t0002g0209 a0002c0003t0003g0157 a0002c0003t0006g0229 a0002c0014t0003g0124 a0003c0005t0003g0125 a0003c0023t0010g0236 a0004c0006t0003g0128 a0004c0006t0003g0172 a0010c0017t0003g0018	17	236	0.0720	18	c.361 others(37): Show c.361+43124_361+43125insACAAGAAAAAAAAAAAAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562733	T T	TGGGGGGG others(11): Show TGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0224 a0001c0001t0014g0224	1	236	0.0042	18	c.295 others(35): Show c.295-1986_295-1985insCCCCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(11): Show TGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0128 a0004c0006t0003g0128	1	236	0.0042	18	c.295 others(35): Show c.295-1989_295-1988insCCCCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGTGGGG others(11): Show TGGTGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0208 a0003c0005t0005g0208	1	236	0.0042	18	c.295 others(35): Show c.295-1989_295-1988insCCCCCCCCCCCCCCCACC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28		chr5	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01243.hp1 others(15): Show HG00642.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02273.hp2 HG02572.hp2 HG03098.hp2 HG03579.hp2 HG03710.hp2 NA18522.hp2 NA18961.hp2 NA18985.hp2 NA19068.hp1 NA19082.hp2	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0005 a0008 a0010 a0012 a0014 a0015 a0020 a0026 a0038 a0039 a0046	a0001c0001 a0003c0007 a0004c0002 others(11): Show a0001c0001 a0003c0007 a0004c0002 a0005c0004 a0008c0006 a0010c0009 a0012c0012 a0014c0020 a0015c0038 a0020c0059 a0026c0036 a0038c0057 a0039c0048 a0046c0070	a0001c0001t0010 a0003c0007t0002 a0004c0002t0002 others(12): Show a0001c0001t0010 a0003c0007t0002 a0004c0002t0002 a0005c0004t0001 a0008c0006t0001 a0010c0009t0001 a0010c0009t0002 a0012c0012t0002 a0014c0020t0002 a0015c0038t0002 a0020c0059t0002 a0026c0036t0001 a0038c0057t0003 a0039c0048t0002 a0046c0070t0002	a0001c0001t0010g0132 a0003c0007t0002g0079 a0003c0007t0002g0084 others(15): Show a0001c0001t0010g0132 a0003c0007t0002g0079 a0003c0007t0002g0084 a0004c0002t0002g0140 a0005c0004t0001g0040 a0008c0006t0001g0056 a0010c0009t0001g0044 a0010c0009t0001g0045 a0010c0009t0002g0053 a0012c0012t0002g0032 a0014c0020t0002g0172 a0014c0020t0002g0173 a0015c0038t0002g0023 a0020c0059t0002g0073 a0026c0036t0001g0024 a0038c0057t0003g0083 a0039c0048t0002g0051 a0046c0070t0002g0204	18	238	0.0756	18	c.277 others(35): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59		chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0042 a0009c0042	a0009c0042t0003 a0009c0042t0003	a0009c0042t0003g0111 a0009c0042t0003g0111	1	238	0.0042	18	c.231 others(37): Show c.2311-9419_2311-9402dupTATATATATATATATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59		chr1	TogoVar
COL24A1_chr1_85724233_86161772	86019422	T T	TGGTGGTG others(11): Show TGGTGGTGGACCATACCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp2 HG01074.hp1 others(59): Show HG00642.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18953.hp2 NA18960.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0004 a0006 others(14): Show a0002 a0004 a0006 a0007 a0015 a0016 a0017 a0022 a0023 a0029 a0031 a0032 a0036 a0037 a0038 a0042 a0046	a0002c0003 a0004c0002 a0004c0071 others(25): Show a0002c0003 a0004c0002 a0004c0071 a0006c0017 a0006c0028 a0006c0032 a0006c0047 a0006c0058 a0006c0061 a0006c0062 a0006c0063 a0007c0010 a0007c0014 a0007c0076 a0015c0038 a0015c0039 a0016c0021 a0017c0022 a0022c0030 a0023c0025 a0029c0040 a0031c0043 a0032c0064 a0036c0055 a0037c0046 a0038c0057 a0042c0065 a0046c0070	a0002c0003t0002 a0004c0002t0001 a0004c0002t0002 others(37): Show a0002c0003t0002 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0004c0002t0004 a0004c0002t0007 a0004c0071t0001 a0006c0017t0005 a0006c0017t0006 a0006c0028t0002 a0006c0028t0003 a0006c0032t0003 a0006c0032t0012 a0006c0047t0005 a0006c0058t0001 a0006c0061t0003 a0006c0062t0001 a0006c0063t0002 a0007c0010t0003 a0007c0010t0004 a0007c0014t0001 a0007c0014t0003 a0007c0014t0017 a0007c0076t0001 a0015c0038t0002 a0015c0039t0003 a0016c0021t0001 a0017c0022t0003 a0017c0022t0011 a0022c0030t0002 a0022c0030t0006 a0023c0025t0004 a0029c0040t0013 a0031c0043t0004 a0032c0064t0003 a0036c0055t0009 a0037c0046t0006 a0038c0057t0003 a0042c0065t0004 a0046c0070t0002	a0002c0003t0002g0141 a0004c0002t0001g0127 a0004c0002t0001g0130 others(59): Show a0002c0003t0002g0141 a0004c0002t0001g0127 a0004c0002t0001g0130 a0004c0002t0001g0151 a0004c0002t0001g0153 a0004c0002t0001g0154 a0004c0002t0001g0181 a0004c0002t0002g0129 a0004c0002t0002g0140 a0004c0002t0002g0183 a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0004c0002t0004g0206 a0004c0002t0004g0215 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0004c0071t0001g0152 a0006c0017t0005g0011 a0006c0017t0005g0016 a0006c0017t0006g0009 a0006c0028t0002g0086 a0006c0028t0003g0072 a0006c0032t0003g0068 a0006c0032t0012g0069 a0006c0047t0005g0010 a0006c0058t0001g0082 a0006c0061t0003g0232 a0006c0062t0001g0094 a0006c0063t0002g0233 a0007c0010t0003g0112 a0007c0010t0003g0199 a0007c0010t0003g0200 a0007c0010t0003g0201 a0007c0010t0003g0202 a0007c0010t0004g0149 a0007c0014t0001g0203 a0007c0014t0001g0221 a0007c0014t0003g0235 a0007c0014t0017g0238 a0007c0076t0001g0236 a0015c0038t0002g0023 a0015c0039t0003g0025 a0016c0021t0001g0021 a0016c0021t0001g0022 a0017c0022t0003g0017 a0017c0022t0011g0018 a0022c0030t0002g0081 a0022c0030t0006g0003 a0023c0025t0004g0035 a0023c0025t0004g0234 a0029c0040t0013g0019 a0031c0043t0004g0105 a0032c0064t0003g0093 a0036c0055t0009g0005 a0037c0046t0006g0007 a0038c0057t0003g0083 a0042c0065t0004g0188 a0046c0070t0002g0204	62	238	0.2605	18	c.225 others(37): Show c.2257-2219_2257-2218insTGGGTATGGTCCACCACC	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	18/59		chr1	TogoVar
COL24A1_chr1_85724233_86161772	86063353	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18984.hp1 NA19011.hp1 others(1): Show NA18960.hp2 NA18984.hp1 NA19011.hp1 NA19090.hp2	a0006 a0037 a0006 a0037	a0006c0017 a0037c0046 a0006c0017 a0037c0046	a0006c0017t0005 a0006c0017t0006 a0037c0046t0006 a0006c0017t0005 a0006c0017t0006 a0037c0046t0006	a0006c0017t0005g0011 a0006c0017t0005g0016 a0006c0017t0006g0009 others(1): Show a0006c0017t0005g0011 a0006c0017t0005g0016 a0006c0017t0006g0009 a0037c0046t0006g0007	4	238	0.0168	18	c.175 others(35): Show c.1752+361_1752+362insCACACACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	8/59		chr1	TogoVar
COL24A1_chr1_85724233_86161772	86108620	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20129.hp2 HG02809.hp1 NA20129.hp2	a0006 a0022 a0006 a0022	a0006c0063 a0022c0030 a0006c0063 a0022c0030	a0006c0063t0002 a0022c0030t0006 a0006c0063t0002 a0022c0030t0006	a0006c0063t0002g0233 a0022c0030t0006g0003 a0006c0063t0002g0233 a0022c0030t0006g0003	2	238	0.0084	18	c.159 others(37): Show c.1599+3929_1599+3946dupTTTTTTTTTTTTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59		chr1	TogoVar
COL25A1_chr4_108803725_109307658	108822043	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG02280.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0048 a0001c0001t0001g0068	2	130	0.0154	18	c.184 others(37): Show c.1845+2130_1845+2131insAAAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	35/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108873522	C C	CTAGTAGT others(11): Show CTAGTAGTAGTAGTAGTAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19079.hp1 HG02280.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0048 a0001c0002t0001g0089 a0001c0001t0001g0048 a0001c0002t0001g0089	2	130	0.0154	18	c.102 others(37): Show c.1021-4390_1021-4373dupCTACTACTACTACTACTA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	19/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108966926	A A	AGAAAGAA others(11): Show AGAAAGAAAGAAAAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(30): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01109.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03942.hp2 NA18522.hp2 NA18941.hp1 NA18952.hp1 NA18952.hp2 NA18998.hp1 NA19030.hp1 NA19079.hp1 NA19086.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0026 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0013 a0001c0002t0022 a0001c0002t0025 a0001c0004t0003 a0001c0006t0015 a0001c0009t0002	a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0068 others(30): Show a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0002g0075 a0001c0001t0002g0091 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0003g0002 a0001c0001t0005g0077 a0001c0001t0006g0064 a0001c0001t0006g0076 a0001c0001t0007g0090 a0001c0001t0019g0023 a0001c0001t0026g0046 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0004g0024 a0001c0002t0004g0031 a0001c0002t0009g0006 a0001c0002t0009g0029 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0002t0022g0073 a0001c0002t0025g0050 a0001c0004t0003g0014 a0001c0006t0015g0022 a0001c0009t0002g0097	33	130	0.2539	18	c.492 others(35): Show c.492+7440_492+7441insCTCTCTTTTCTTTCTTTC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109019373	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp1 NA19086.hp1 HG01109.hp2 HG01993.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0020 a0001c0002t0004 a0001c0003t0004 a0001c0001t0020 a0001c0002t0004 a0001c0003t0004	a0001c0001t0020g0035 a0001c0002t0004g0031 a0001c0003t0004g0026 a0001c0001t0020g0035 a0001c0002t0004g0031 a0001c0003t0004g0026	3	130	0.0231	18	c.421 others(35): Show c.421-8999_421-8998insATATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109137984	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02056.hp1 HG02293.hp1 others(1): Show HG01346.hp1 HG02056.hp1 HG02293.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0003g0002 others(1): Show a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0003g0002 a0001c0002t0001g0101	4	130	0.0308	18	c.368 others(37): Show c.368-87806_368-87805insCACACACACACACACATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109218357	G G	GTTTTTTT others(11): Show GTTTTTTTTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0001 a0001c0003t0004g0001	1	130	0.0077	18	c.367 others(37): Show c.367+82225_367+82226insAAACAAACAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109250369	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00639.hp1 others(32): Show HG00323.hp1 HG00558.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01361.hp1 HG01361.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 NA18941.hp1 NA19043.hp1 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0027 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0022 a0001c0003t0001 a0001c0003t0004 a0001c0003t0023 a0001c0003t0024 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0029	a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0074 others(32): Show a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0002g0058 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0003g0005 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0004g0004 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0006g0072 a0001c0001t0020g0035 a0001c0001t0027g0086 a0001c0002t0001g0039 a0001c0002t0001g0066 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0007g0115 a0001c0002t0008g0060 a0001c0002t0008g0087 a0001c0002t0010g0030 a0001c0002t0022g0073 a0001c0003t0001g0053 a0001c0003t0001g0057 a0001c0003t0004g0001 a0001c0003t0004g0026 a0001c0003t0023g0127 a0001c0003t0024g0045 a0001c0004t0001g0040 a0001c0004t0003g0014 a0001c0004t0004g0027 a0001c0004t0029g0095	35	130	0.2692	18	c.367 others(37): Show c.367+50196_367+50213dupGTGTGTGTGTGTGTGTGT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254469	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02145.hp2 HG02523.hp2 others(5): Show HG02071.hp1 HG02145.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp2 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0005t0002 a0001c0009t0002	a0001c0001t0001g0069 a0001c0001t0002g0100 a0001c0001t0003g0002 others(5): Show a0001c0001t0001g0069 a0001c0001t0002g0100 a0001c0001t0003g0002 a0001c0001t0005g0077 a0001c0001t0007g0090 a0001c0001t0012g0096 a0001c0005t0002g0123 a0001c0009t0002g0097	8	130	0.0615	18	c.367 others(37): Show c.367+46096_367+46113dupTATATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254505	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0086 a0001c0001t0027g0086	1	130	0.0077	18	c.367 others(37): Show c.367+46077_367+46078insCATATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254505	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0030 a0001c0002t0010g0030	1	130	0.0077	18	c.367 others(37): Show c.367+46077_367+46078insCACATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254505	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	130	0.0077	18	c.367 others(37): Show c.367+46077_367+46078insCACACATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL25A1_chr4_108803725_109307658	109256085	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	130	0.0077	18	c.367 others(37): Show c.367+44480_367+44497dupACACACACACACACACAC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37		chr4	TogoVar
COL26A1_chr7_101357875_101564024	101385367	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG01167.hp2 HG01261.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0008t0007 a0001c0005t0002 a0001c0008t0007	a0001c0005t0002g0118 a0001c0008t0007g0121 a0001c0005t0002g0118 a0001c0008t0007g0121	2	174	0.0115	18	c.158 others(37): Show c.158+22179_158+22196dupATATATATATATATATAT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387772	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0063 a0002c0004t0001g0063	1	174	0.0058	18	c.158 others(37): Show c.158+24583_158+24584insTTTTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101414432	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0144 a0001c0005t0005g0144	1	174	0.0058	18	c.159 others(35): Show c.159-5535_159-5518dupGTGTGTGTGTGTGTGTGT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101446046	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0088	1	174	0.0058	18	c.282 others(35): Show c.282-1631_282-1614dupAAAAAAAAAAAAAAAAAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463771	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(52): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp2 NA18947.hp1 NA18963.hp1 NA18963.hp2 NA18985.hp1 NA19005.hp1 NA19060.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0003c0010 a0007c0019	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(21): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0006 a0001c0002t0018 a0001c0005t0002 a0001c0005t0023 a0001c0005t0029 a0001c0008t0007 a0001c0009t0003 a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 a0001c0014t0009 a0002c0003t0001 a0002c0003t0026 a0002c0004t0001 a0002c0004t0024 a0002c0006t0004 a0002c0007t0004 a0003c0010t0027 a0007c0019t0028	a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0098 others(52): Show a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0094 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0001t0008g0115 a0001c0001t0011g0108 a0001c0001t0015g0060 a0001c0002t0006g0003 a0001c0002t0018g0045 a0001c0005t0002g0118 a0001c0005t0023g0116 a0001c0005t0029g0092 a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0076 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0121 a0001c0009t0003g0026 a0001c0009t0006g0019 a0001c0009t0013g0014 a0001c0013t0010g0028 a0001c0013t0010g0039 a0001c0014t0009g0099 a0002c0003t0001g0065 a0002c0003t0001g0088 a0002c0003t0001g0102 a0002c0003t0001g0112 a0002c0003t0001g0161 a0002c0003t0001g0164 a0002c0003t0026g0107 a0002c0004t0001g0070 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0129 a0002c0004t0001g0138 a0002c0004t0001g0148 a0002c0004t0024g0095 a0002c0006t0004g0013 a0002c0006t0004g0016 a0002c0007t0004g0053 a0003c0010t0027g0172 a0007c0019t0028g0162	55	174	0.3161	18	c.385 others(37): Show c.385+15999_385+16000insCTCTCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463775	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 NA18522.hp1 others(1): Show HG02486.hp1 HG02922.hp1 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0132 others(1): Show a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0132 a0002c0003t0001g0100	4	174	0.0230	18	c.385 others(37): Show c.385+16000_385+16001insTCTCTCTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101466795	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19005.hp1 HG00621.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0080 a0002c0003t0001g0164 a0001c0001t0002g0080 a0002c0003t0001g0164	2	174	0.0115	18	c.385 others(37): Show c.385+19034_385+19051dupTGTGTGTGTGTGTGTGTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101466837	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp1 HG01167.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0002 a0001c0001t0009 a0001c0005t0002	a0001c0001t0009g0152 a0001c0005t0002g0118 a0001c0001t0009g0152 a0001c0005t0002g0118	2	174	0.0115	18	c.385 others(37): Show c.385+19051_385+19052insTGTGTGTGTGTGTGTGAG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101483990	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0046 a0002c0007t0004g0046	1	174	0.0058	18	c.385 others(37): Show c.385+36230_385+36247dupGTGTGTGTGTGTGTGTGT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101520633	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00673.hp2 others(9): Show HG00438.hp2 HG00621.hp1 HG00673.hp2 HG01070.hp2 HG01257.hp1 HG01258.hp1 HG02071.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG04199.hp1 NA19060.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0002c0003 a0004c0011 others(2): Show a0001c0001 a0002c0003 a0004c0011 a0005c0015 a0006c0016	a0001c0001t0002 a0001c0001t0009 a0002c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0009 a0002c0003t0001 a0004c0011t0003 a0005c0015t0013 a0006c0016t0004	a0001c0001t0002g0163 a0001c0001t0009g0152 a0001c0001t0009g0153 others(9): Show a0001c0001t0002g0163 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0159 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0087 a0002c0003t0001g0102 a0004c0011t0003g0012 a0004c0011t0003g0038 a0005c0015t0013g0036 a0006c0016t0004g0035	12	174	0.0690	18	c.386 others(37): Show c.386-12436_386-12419dupACACACACACACACACAC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12	INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114157346	A A	ACCTCTGC others(11): Show ACCTCTGCTCTCCAGCATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0002 a0003c0021t0001g0002	2	308	0.0065	18	c.62+ others(33): Show c.62+1362_62+1379dupTCCAGCATGCCTCTGCTC	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	1/60	INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114182177	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02258.hp1 others(5): Show HG01109.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG03453.hp1 NA20129.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0014 a0042	a0001c0166 a0002c0001 a0002c0008 others(5): Show a0001c0166 a0002c0001 a0002c0008 a0002c0167 a0011c0069 a0011c0112 a0014c0168 a0042c0131	a0001c0166t0008 a0002c0001t0003 a0002c0008t0003 others(5): Show a0001c0166t0008 a0002c0001t0003 a0002c0008t0003 a0002c0167t0037 a0011c0069t0031 a0011c0112t0006 a0014c0168t0002 a0042c0131t0011	a0001c0166t0008g0159 a0002c0001t0003g0138 a0002c0008t0003g0157 others(5): Show a0001c0166t0008g0159 a0002c0001t0003g0138 a0002c0008t0003g0157 a0002c0167t0037g0158 a0011c0069t0031g0161 a0011c0112t0006g0139 a0014c0168t0002g0160 a0042c0131t0011g0096	8	308	0.0260	18	c.196 others(35): Show c.1963-831_1963-830insTAATAATAATAATAATAA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	4/60	INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)